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Disease-modifying treatment for spinal muscular atrophy (SMA) has been available in Australia since 2017, with a growing body of real-world evidence supporting the treatment of adults with SMA to preserve motor function and prevent further decline.

However, adult SMA patients may disengage from specialist healthcare at the time of transition from paediatric to adult services, according to a qualitative study that explored the lived experience of 19 Australian SMA patients and five parents.

This creates an opportunity for GPs to refer patients to a neurologist or hospital-based neuromuscular clinic for genetic confirmation of their disease and SMA type and for treatment by a multidisciplinary team. Those with the most common form of the disease, 5q SMA, can be assessed for the option of treatment with survival motor neuron (SMN) therapy, says Sydney neurologist Dr Christina Liang.